An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

被引：6

作者：

Beetz, Christian

Nygren, Anders O. H.

Deufel, Thomas

Reid, Evan

机构：

[1] Univ Klin, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

[2] MRC Holland, Amsterdam, Netherlands

[3] Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge, England

来源：

NEUROGENETICS | 2007年 / 8卷 / 04期

基金：

英国惠康基金;

关键词：

Index Patient; Hereditary Spastic Paraplegia; Dominant Negative Effect; Copy Number Aberration; Autosomal Dominant;

D O I：

10.1007/s10048-007-0099-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：317 / 318

页数：2

共 8 条

[1] High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
Beetz, C.
Nygren, A. O. H.
Schickel, J.
Auer-Grumbach, M.
Buerk, K.
Heide, G.
Kassubek, J.
Klimpe, S.
Klopstock, T.
Kreuz, F.
Otto, S.
Schuele, R.
Schoels, L.
Sperfeld, A. -D.
Witte, O. W.
Deufel, T.
[J]. NEUROLOGY, 2006, 67 (11) : 1926 - 1930
[2] Beginning to understand hereditary spastic paraplegia atlastin
Elliott, JL
[J]. ARCHIVES OF NEUROLOGY, 2004, 61 (12) : 1842 - 1843
[3] Hereditary spastic paraplegia: The pace quickens
Fink, JK
[J]. ANNALS OF NEUROLOGY, 2002, 51 (06) : 669 - 672
[4] Characterization of a novel SPG3A deletion in a French-Canadian family
Meijer, Inge A.
Dion, Patrick
Laurent, Sandra
Dupre, Nicolas
Brais, Bernard
Levert, Annie
Puymirat, Jacques
Rioux, Marie France
Sylvain, Michel
Zhu, Peng-Peng
Soderblom, Cynthia
Stadler, Julia
Blackstone, Craig
Rouleau, Guy A.
[J]. ANNALS OF NEUROLOGY, 2007, 61 (06) : 599 - 603
[5] SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
Namekawa, M
Ribai, P
Nelson, I
Forlani, S
Fellmann, F
Goizet, C
Depienne, C
Stevanin, G
Ruberg, M
Dürr, A
Brice, A
[J]. NEUROLOGY, 2006, 66 (01) : 112 - 114
[6] All neuropathies great and small
Penny, EB
McCabe, BD
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (11) : 2968 - 2971
[7] The hereditary spastic paraplegias
Reid, E
[J]. JOURNAL OF NEUROLOGY, 1999, 246 (11) : 995 - 1003
[8] SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development
Zhu, PP
Soderblom, C
Tao-Cheng, JH
Stadler, J
Blackstone, C
[J]. HUMAN MOLECULAR GENETICS, 2006, 15 (08) : 1343 - 1353

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